Inheritance

and Pedigrees

Genetics Terminology: Chromosomes & Genes

Genome - Complete
complement of an organisms DNA.

Cellular DNA is organized in

Chromosmes

Genes have specific

places on chromosomes.

Image: Chromosome & gene, Graham Colm, National Human Genome Research Institute

From the Virtual Cell Biology Classroom on ScienceProfOnline.com

(Johann) Gregor Mendel (1822-1864) Austrian monk who discovered basic principles of heredity through his experiments with garden peas Received no recogniGon for his work during his lifeGme

Mendel's Laws
1. Law of Dominance 2. Law of Segregation 3. Law of Independent Assortment

Image: Gregor Mendel, Mendel's Principles of Heredity: A Defense by Bateson, William.

From the Virtual Cell Biology Classroom on ScienceProfOnline.com

Mendels Law of Dominance In a cross of parents that are pure for contrasting traits, only one form of the trait will appear in the next generation. Offspring that are hybrid for a trait will have only the dominant trait in the phenotype. Mendels Law of Segregation - During the formation of gametes (eggs or sperm), the two alleles (hereditary units) responsible for a trait separate from each other. - Alleles for a trait are then "recombined" at fertilization, producing the genotype for the traits of the offspring.

Mendels Law of Independent Assortment

- Alleles for different traits are distributed to sex cells (& offspring) independently of one another.

What is Mendelian Inheritance? Mendelian Inheritance refers to the transmission of inherited traits from generaGon to generaGon through the transmission of genes Autosomal Recessive Autosomal Dominant X-linked recessive X-linked dominant Y-linked Mitochondrial

Deni=on of terms: see notes

Genetics Terminology
Dominant & Recessive Genotypes & Phenotypes
____________ genotype: Both recessive alleles must be present (rr). ___________ genotype: At least one dominant allele is present (R-).

Character: Tongue Rolling Being able to roll your tongue is a dominant phenotype.
Harry: Being able to roll your tongue is the dominant trait (phenotype). Q: How would we represent the genotype of he was homozygous dominant? Hermione: Not being able to roll your tongue is the recessive (phenotype). Q: What would be the recessive genotype?

___ ___

___ ___

___ ___
Q: Would Harriet be able to roll her tongue?

From the Virtual Cell Biology Classroom on ScienceProfOnline.com

Autosomal dominant inheritance when one parent carries the autosomal dominant faulty gene copy. The autosomal dominant faulty gene copy is represented by D; the working copy of the gene by d.

Autosomal dominant inheritance when both parents carry the autosomal dominant faulty gene copy. The autosomal dominant faulty gene copy is represented by D; the working copy of the gene by d.

Autosomal dominant inheritance

Parents

Gametes

Autosomal dominant inheritance

Parents

Gametes

At conception

Autosomal dominant inheritance

Parents

Gametes

At conception

Autosomal dominant inheritance

Parents

Gametes
At conception

Autosomal dominant inheritance

Parents

Gametes
At conception

Autosomal dominant inheritance

Parents

Gametes
At conception

Aected

Aected

Unaected

Autosomal recessive inheritance when both parents are unaected gene=c carriers for the condi=on. The faulty copy of the gene containing a recessive muta=on is represented by r; the working copy of the gene by R.

Autosomal recessive inheritance when only one of the parents is an unaected gene=c carrier for the condi=on. The faulty copy of the gene containing a recessive muta=on is represented by r; the working copy of the gene by R

Autosomal recessive inheritance when one of the parents is an aected or predisposed to develop the condi6on. and the other parent is an unaected gene6c carrier for the condi6on. The faulty copy of the gene containing a recessive muta6on is represented by r; the working copy of the gene by R.

Autosomal recessive inheritance when both parents are aected or predisposed to develop the condi6on. The faulty copy of the gene containing a recessive muta6on is represented by r; the working copy of the gene by R.